A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302967



Internal ID14803229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43696529..43697033hg38UCSC Ensembl
Innerchr20:43696629..43696933hg38UCSC Ensembl
Outerchr20:43696429..43697133hg38UCSC Ensembl
chr20:42325169..42325673hg19UCSC Ensembl
Innerchr20:42325269..42325573hg19UCSC Ensembl
Outerchr20:42325069..42325773hg19UCSC Ensembl
chr20:41758583..41759087hg18UCSC Ensembl
Innerchr20:41758683..41758987hg18UCSC Ensembl
Outerchr20:41758483..41759187hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38505
hg19505
hg18505
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7734427, essv7732277, essv7738663, essv7738476
SamplesNA18545, NA18576, NA18592, NA18638
Known GenesMYBL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302967
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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